Canonical Allele Identifier: CA1910761988
Gene: PCDH15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53808918_53808939delinsTCTGTACTTTCTTCCACAGGGG , CM000672.2:g.53808918_53808939delinsTCTGTACTTTCTTCCACAGGGG GRCh38
NC_000010.10:g.55568678_55568699delinsTCTGTACTTTCTTCCACAGGGG , CM000672.1:g.55568678_55568699delinsTCTGTACTTTCTTCCACAGGGG GRCh37
NC_000010.9:g.55238684_55238705delinsTCTGTACTTTCTTCCACAGGGG NCBI36
NG_009191.2:g.997353_997374delinsCCCCTGTGGAAGAAAGTACAGA
NG_009191.3:g.1825244_1825265delinsCCCCTGTGGAAGAAAGTACAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.5126_5147delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000482794.1:p.Ala1709=
ENST00000395445.6:c.5105_5126delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000378832.2:p.Ala1702=
ENST00000613657.5:c.5126_5147delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000482794.1:p.Ala1709=
ENST00000642496.1:c.3530+1617_3530+1638delinsCCCCTGTGGAAGAAAGTACAGA
ENST00000644397.2:c.4671+1617_4671+1638delinsCCCCTGTGGAAGAAAGTACAGA MANE Select ENSP00000495195.1:n.4671+1617_4671+1638delinsCCCCTGTGGAAGAAAG...
ENST00000373965.6:c.4482+1617_4482+1638delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000363076.3:n.4482+1617_4482+1638delinsCCCCTGTGGAAGAAAG...
ENST00000395438.5:c.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000378826.2:n.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA
ENST00000395440.5:c.1913_1934delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000378827.1:p.Ala638=
ENST00000395442.5:c.1706_1727delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000378829.1:p.Ala569=
ENST00000395445.5:c.5105_5126delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000378832.2:p.Ala1702=
ENST00000395446.5:c.2699_2720delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000378833.1:p.Ala900=
ENST00000409834.5:c.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000386693.1:n.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA
ENST00000414367.5:c.*1164_*1185delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000412531.1:n.*1164_*1185delinsCCCCTGTGGAAGAAAGTACAGA
ENST00000414778.5:c.4479+1617_4479+1638delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000410304.2:n.4479+1617_4479+1638delinsCCCCTGTGGAAGAAAG...
ENST00000476074.5:n.609+1617_609+1638delinsCCCCTGTGGAAGAAAGTACAGA
ENST00000495484.5:c.699+1617_699+1638delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000480780.1:n.699+1617_699+1638delinsCCCCTGTGGAAGAAAGTA...
ENST00000612394.4:c.5123_5144delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000482921.1:p.Ala1708=
ENST00000613657.4:c.5126_5147delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000482794.1:p.Ala1709=
ENST00000614895.4:c.4494+1617_4494+1638delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000478512.1:n.4494+1617_4494+1638delinsCCCCTGTGGAAGAAAG...
ENST00000615043.1:c.726_747delinsCCCCTGTGGAAGAAAGTACAGA
ENST00000616114.4:c.4476+1617_4476+1638delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000483745.1:n.4476+1617_4476+1638delinsCCCCTGTGGAAGAAAG...
ENST00000617271.4:c.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000478076.1:n.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA
ENST00000618301.4:c.831+1617_831+1638delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000482780.1:n.831+1617_831+1638delinsCCCCTGTGGAAGAAAGTA...
ENST00000621708.4:c.4497+1617_4497+1638delinsCCCCTGTGGAAGAAAGTACAGA ENSP00000484454.1:n.4497+1617_4497+1638delinsCCCCTGTGGAAGAAAG...
NM_001142769.1:c.5126_5147delinsCCCCTGTGGAAGAAAGTACAGA NP_001136241.1:p.Ala1709=
NM_001142770.1:c.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA NP_001136242.1:n.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA
NM_001142771.1:c.4497+1617_4497+1638delinsCCCCTGTGGAAGAAAGTACAGA NP_001136243.1:n.4497+1617_4497+1638delinsCCCCTGTGGAAGAAAGTAC...
NM_001142772.1:c.4482+1617_4482+1638delinsCCCCTGTGGAAGAAAGTACAGA NP_001136244.1:n.4482+1617_4482+1638delinsCCCCTGTGGAAGAAAGTAC...
NM_001142769.2:c.5126_5147delinsCCCCTGTGGAAGAAAGTACAGA NP_001136241.1:p.Ala1709=
NM_001142770.2:c.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA NP_001136242.1:n.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA
NM_001354411.1:c.5105_5126delinsCCCCTGTGGAAGAAAGTACAGA NP_001341340.1:p.Ala1702=
NM_001354420.1:c.4476+1617_4476+1638delinsCCCCTGTGGAAGAAAGTACAGA NP_001341349.1:n.4476+1617_4476+1638delinsCCCCTGTGGAAGAAAGTAC...
NM_001354429.1:c.4605+1617_4605+1638delinsCCCCTGTGGAAGAAAGTACAGA NP_001341358.1:n.4605+1617_4605+1638delinsCCCCTGTGGAAGAAAGTAC...
XM_017016573.2:c.5105_5126delinsCCCCTGTGGAAGAAAGTACAGA XP_016872062.1:p.Ala1702=
XR_001747192.2:n.10963+1617_10963+1638delinsCCCCTGTGGAAGAAAGTACAGA
XR_001747193.2:n.10954+1617_10954+1638delinsCCCCTGTGGAAGAAAGTACAGA
NM_001142769.3:c.5126_5147delinsCCCCTGTGGAAGAAAGTACAGA NP_001136241.1:p.Ala1709=
NM_001142770.3:c.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA NP_001136242.1:n.*541_*562delinsCCCCTGTGGAAGAAAGTACAGA
NM_001142771.2:c.4497+1617_4497+1638delinsCCCCTGTGGAAGAAAGTACAGA NP_001136243.1:n.4497+1617_4497+1638delinsCCCCTGTGGAAGAAAGTAC...
NM_001142772.2:c.4482+1617_4482+1638delinsCCCCTGTGGAAGAAAGTACAGA NP_001136244.1:n.4482+1617_4482+1638delinsCCCCTGTGGAAGAAAGTAC...
NM_001354411.2:c.5105_5126delinsCCCCTGTGGAAGAAAGTACAGA NP_001341340.1:p.Ala1702=
NM_001354420.2:c.4476+1617_4476+1638delinsCCCCTGTGGAAGAAAGTACAGA NP_001341349.1:n.4476+1617_4476+1638delinsCCCCTGTGGAAGAAAGTAC...
NM_001354429.2:c.4605+1617_4605+1638delinsCCCCTGTGGAAGAAAGTACAGA NP_001341358.1:n.4605+1617_4605+1638delinsCCCCTGTGGAAGAAAGTAC...
NM_001384140.1:c.4671+1617_4671+1638delinsCCCCTGTGGAAGAAAGTACAGA MANE Select NP_001371069.1:n.4671+1617_4671+1638delinsCCCCTGTGGAAGAAAGTAC...